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- W4285803447 endingPage "3025" @default.
- W4285803447 startingPage "3012" @default.
- W4285803447 abstract "Arachnoid cysts (ACs) are the most common space-occupying lesions in the human brain and present significant challenges for clinical management. While most cases of ACs are sporadic, nearly 40 familial forms have been reported. Moreover, ACs are seen with increased frequency in multiple Mendelian syndromes, including Chudley-McCullough syndrome, acrocallosal syndrome, and autosomal recessive primary ciliary dyskinesia. These findings suggest that genetic factors contribute to AC pathogenesis. However, traditional linkage and segregation approaches have been limited in their ability to identify causative genes for ACs because the disease is genetically heterogeneous and often presents asymptomatically and sporadically. Here, we comprehensively review theories of AC pathogenesis, the genetic evidence for AC formation, and discuss a different approach to AC genomics that could help elucidate this perplexing lesion and shed light on the associated neurodevelopmental phenotypes seen in a significant subset of these patients." @default.
- W4285803447 created "2022-07-19" @default.
- W4285803447 creator A5009862994 @default.
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- W4285803447 creator A5085777770 @default.
- W4285803447 creator A5089242485 @default.
- W4285803447 date "2022-07-18" @default.
- W4285803447 modified "2023-09-28" @default.
- W4285803447 title "Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis" @default.
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